A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2443806



Internal ID17489404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:37374088..37375907hg38UCSC Ensembl
Innerchr7:37413691..37415510hg19UCSC Ensembl
Innerchr7:37380216..37382035hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381820
hg191820
hg181820
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981452
Supporting Variants
SamplesHGDP00998
Known GenesELMO1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2443806
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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